ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr)

gnomAD frequency: 0.00002  dbSNP: rs781737736
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518576 SCV000616051 uncertain significance not specified 2016-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000537478 SCV000642945 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481687 SCV002797037 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139725 SCV003825605 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing

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